Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
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DOI：
10.1002/pd.4924
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发表时间：
2016-11
影响因子：
3
通讯作者：
Beaudet, Arthur L.
中科院分区：
文献类型：
--
作者：
Breman, Amy M.;Chow, Jennifer C.;U'Ren, Lance;Normand, Elizabeth A.;Qdaisat, Sadeem;Zhao, Li;Henke, David M.;Chen, Rui;Shaw, Chad A.;Jackson, Laird;Yang, Yaping;Vossaert, Liesbeth;Needham, Rachel H. V.;Chang, Elizabeth J.;Campton, Daniel;Werbin, Jeffrey L.;Seubert, Ron C.;Van den Veyver, Ignatia B.;Stilwell, Jackie L.;Kaldjian, Eric P.;Beaudet, Arthur L.
目的是开发使用阵列比较基因组杂交（CGH）和/或下一代测序（NGS）分析检测妊娠10-16周母亲循环中胎儿细胞染色体和亚染色体异常的方法。从妊娠10-16周收集的30 mL血液中通过密度分级分离有核细胞与红细胞，然后免疫染色以鉴定细胞角蛋白阳性和CD 45阴性滋养层细胞。挑取单个细胞并进行全基因组扩增、基因分型，并通过阵列CGH和NGS进行分析。如通过Y染色体PCR、短串联重复序列分析、阵列CGH和NGS所记录的，从大多数样品中回收胎儿细胞，包括超过30个正常雄性细胞、来自受影响胎儿的一个47，XXY细胞、来自受影响胎儿的一个18三体细胞、来自21三体病例的九个细胞、三个正常细胞和来自具有局限性胎盘嵌合体的病例的一个13三体细胞，和来自CVS已知具有2.7Mb从头缺失的病例的两个15号染色体缺失细胞。我们认为，这是第一次报告使用阵列CGH和NGS全基因组测序检测胎儿滋养层细胞染色体异常的母血。© 2016作者。产前诊断由John Wiley & Sons，Ltd.出版。无细胞DNA分析用于无创产前检测（NIPT）已得到广泛应用，子宫颈穿刺术和CVS的频率已有所下降。然而，无细胞NIPT不足以检测具有高特异性、灵敏度和阳性预测值的较小缺失和重复。尽管已知母体循环中存在胎儿有核红细胞和滋养层细胞，但尚不可能开发出可靠的基于细胞遗传学细胞的NIPT形式。关于这个话题我们已经知道了什么？ 成功地从母体血液中回收了胎儿细胞滋养层细胞。虽然临床试验尚未得到验证，但首次证明了使用阵列比较基因组杂交和下一代测序检测染色体和亚染色体异常的可行性。结果表明，有可能开发出一种基于细胞的NIPT形式，能够以与目前使用穿刺术和CVS获得的相似的准确度检测异常。这项研究增加了什么？
The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10–16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next‐generation sequencing (NGS). Nucleated cells from 30 mL of blood collected at 10–16 weeks' gestation were separated from red cells by density fractionation and then immunostained to identify cytokeratin positive and CD45 negative trophoblasts. Individual cells were picked and subjected to whole genome amplification, genotyping, and analysis by array CGH and NGS. Fetal cells were recovered from most samples as documented by Y chromosome PCR, short tandem repeat analysis, array CGH, and NGS including over 30 normal male cells, one 47,XXY cell from an affected fetus, one trisomy 18 cell from an affected fetus, nine cells from a trisomy 21 case, three normal cells and one trisomy 13 cell from a case with confined placental mosaicism, and two chromosome 15 deletion cells from a case known by CVS to have a 2.7 Mb de novo deletion. We believe that this is the first report of using array CGH and NGS whole genome sequencing to detect chromosomal abnormalities in fetal trophoblastic cells from maternal blood. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. Analysis of cell‐free DNA for noninvasive prenatal testing (NIPT) is widely practiced, and the frequency of amniocentesis and CVS has decreased. However, cell‐free NIPT is not adequate for detecting smaller deletions and duplications with high specificity, sensitivity, and positive predictive value. Although fetal nucleated red blood cells and trophoblastic cells are known to be present in the maternal circulation, it has not been possible to develop a reliable cytogenetic cell‐based form of NIPT. What's already known about this topic? Fetal cytotrophoblasts were successfully recovered from maternal blood. Although a clinical test has not been validated, for the first time, the feasibility of using array comparative genomic hybridization and next generation sequencing to detect chromosomal and subchromosomal abnormalities is demonstrated. The results suggest the possibility of developing a cell‐based form of NIPT with ability to detect abnormalities with a similar accuracy as can currently be obtained with amniocentesis and CVS. What does this study add?
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影响因子：
3
作者：
Bianchi, DW;Simpson, JL;Wapner, RJ
通讯作者：
Wapner, RJ
影响因子：
3.2
作者：
Guetta, E;Gutstein-Abo, L;Barkai, G
通讯作者：
Barkai, G
影响因子：
4
作者：
Kung, Allen;Munne, Santiago;Wells, Dagan
通讯作者：
Wells, Dagan
影响因子：
9.8
作者：
Lo, Kitty K.;Karampetsou, Evangelia;Chitty, Lyn S.
通讯作者：
Chitty, Lyn S.
影响因子：
3
作者：
Chitty LS;Mason S;Barrett AN;McKay F;Lench N;Daley R;Jenkins LA
通讯作者：
Jenkins LA